Canonical Allele Identifier: CA121476

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 11456
• ClinVar RCV Id: RCV000012211 ; RCV000059068
• dbSNP Id: rs137853326
• MyVariant Identifiers: chrX:g.153792666G>T (hg19) ; chrX:g.154564451G>T (hg38)
• PubMed: PMID:11047757

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154564451G>T , CM000685.2:g.154564451G>T	GRCh38
NC_000023.10:g.153792666G>T , CM000685.1:g.153792666G>T	GRCh37
NC_000023.9:g.153445860G>T	NCBI36
NG_009896.1:g.27208G>T , LRG_70:g.27208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.1214G>T	ENSP00000398579.2:p.Cys405Phe
ENST00000422680.6:c.1250G>T	ENSP00000390368.3:p.Cys417Phe
ENST00000440286.6:c.1250G>T	ENSP00000394934.2:p.Cys417Phe
ENST00000445622.6:c.1250G>T	ENSP00000395205.2:p.Cys417Phe
ENST00000615186.5:c.848G>T	ENSP00000479144.2:p.Cys283Phe
ENST00000689906.1:c.1097G>T	ENSP00000508630.1:p.Cys366Phe
ENST00000692948.1:c.1307G>T	ENSP00000508773.1:p.Cys436Phe
ENST00000594239.6:c.1250G>T MANE Select	ENSP00000471166.1:p.Cys417Phe
ENST00000594239.5:c.1250G>T	ENSP00000471166.1:p.Cys417Phe
ENST00000611071.4:c.1250G>T	ENSP00000479662.1:p.Cys417Phe
ENST00000611176.4:c.953G>T	ENSP00000478616.1:p.Cys318Phe
ENST00000612051.1:c.*1242G>T	ENSP00000480431.1:n.*1242G>T
ENST00000615874.4:c.1226G>T	ENSP00000483381.1:p.Cys409Phe
ENST00000617207.4:c.1247G>T	ENSP00000484023.1:p.Cys416Phe
ENST00000618670.4:c.1454G>T	ENSP00000483825.1:p.Cys485Phe
ENST00000619941.4:c.1229G>T	ENSP00000478979.1:p.Cys410Phe
NM_001099856.3:c.1454G>T	NP_001093326.2:p.Cys485Phe
NM_001099857.2:c.1250G>T	NP_001093327.1:p.Cys417Phe
NM_001145255.2:c.953G>T	NP_001138727.1:p.Cys318Phe
NM_003639.4:c.1250G>T	NP_003630.1:p.Cys417Phe
XM_005274760.3:c.1451G>T	XP_005274817.1:p.Cys484Phe
XM_005274761.3:c.1321+431G>T	XP_005274818.1:n.1321+431G>T
XM_005274764.3:c.1247G>T	XP_005274821.1:p.Cys416Phe
XM_011531203.1:c.1301G>T	XP_011529505.1:p.Cys434Phe
XM_011531204.1:c.1250G>T	XP_011529506.1:p.Cys417Phe
XM_011531205.1:c.1250G>T	XP_011529507.1:p.Cys417Phe
NM_001099856.4:c.1454G>T	NP_001093326.2:p.Cys485Phe
NM_001321396.1:c.1250G>T	NP_001308325.1:p.Cys417Phe
NM_001321397.1:c.1247G>T	NP_001308326.1:p.Cys416Phe
NM_001099856.6:c.1454G>T	NP_001093326.2:p.Cys485Phe
NM_001099857.4:c.1250G>T	NP_001093327.1:p.Cys417Phe
NM_001145255.4:c.953G>T	NP_001138727.1:p.Cys318Phe
NM_001321396.3:c.1250G>T	NP_001308325.1:p.Cys417Phe
NM_001321397.3:c.1247G>T	NP_001308326.1:p.Cys416Phe
NM_001377312.1:c.1250G>T	NP_001364241.1:p.Cys417Phe
NM_001377313.1:c.1247G>T	NP_001364242.1:p.Cys416Phe
NM_001377314.1:c.1094G>T	NP_001364243.1:p.Cys365Phe
NM_001377315.1:c.881G>T	NP_001364244.1:p.Cys294Phe
NR_165197.1:n.1119G>T
NM_001099857.5:c.1250G>T MANE Select	NP_001093327.1:p.Cys417Phe